Canonical Allele Identifier: CA367181653

Gene: RP9

Linked Data

• gnomAD v4: 7-33096553-G-T
• MyVariant Identifiers: chr7:g.33136165G>T (hg19) ; chr7:g.33096553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096553G>T , CM000669.2:g.33096553G>T	GRCh38
NC_000007.13:g.33136165G>T , CM000669.1:g.33136165G>T	GRCh37
NC_000007.12:g.33102690G>T	NCBI36
NG_012968.1:g.17838C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2380C>A
ENST00000492391.2:n.1531C>A
ENST00000682645.1:n.3478C>A
ENST00000683432.1:c.*582C>A	ENSP00000508174.1:n.*582C>A
ENST00000684207.1:c.407C>A	ENSP00000506942.1:p.Ala136Glu
ENST00000297157.8:c.407C>A MANE Select	ENSP00000297157.3:p.Ala136Glu
ENST00000297157.7:c.407C>A	ENSP00000297157.3:p.Ala136Glu
ENST00000448915.1:c.305C>A	ENSP00000411577.1:p.Ala102Glu
NM_203288.1:c.407C>A	NP_976033.1:p.Ala136Glu
XM_011515468.1:c.305C>A	XP_011513770.1:p.Ala102Glu
XM_011515468.3:c.305C>A	XP_011513770.1:p.Ala102Glu
NM_203288.2:c.407C>A MANE Select	NP_976033.1:p.Ala136Glu